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HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. [2]
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence (e.g. between ages 5 and 18 years). The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.
Spastic paraplegia 31 is a rare type of hereditary spastic paraplegia which is ... People with this condition usually start having symptoms either at childhood or in ...
People with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems. [2] [3] Less common symptoms include epilepsy, peripheral neuropathy of variable degrees, and memory ...
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Spastic Paraplegia 50 is a neurodegenerative condition, which means it becomes harder for kids who get it to reach developmental milestones as they get older. One Littleton family shares their ...
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias [1] a paraplegia known to increase stiffness spasticity in the lower limbs. [2] This syndrome also has two other names, CRASH [3] syndrome and Gareis-Mason syndrome.
Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [7] Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). [9] HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. [9]
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